: Angioid Streaks and Pseudoxanthoma Elasticum

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Angioid Streaks and Pseudoxanthoma Elasticum

Presented by: Lombardo, M.D., Ph.D.

Case Presentation

61 y.o. black female with poor vision.

CLINICAL FEATURES

Irregular, spokelike, curvilinear breaks in Bruch's membrane.

Radiate outward from the peripapillary area in all directions.

Almost always bilateral.

Red to dark brown in color; gray if fibrovascular tissue is present.

Hyperpigmentation or atrophy of retinal pigment epithelium (RPE) may occur at

the margin of a streak.

Streaks asymptomatic, but complications cause visual loss.

Main cause of visual loss is choroidal neovascularization (CNVM), RPE

detachment, and macular degeneration.

In one series, macular degeneration in 72%, exudative maculopathy in 57%,

atrophic maculopathy in 14%.

In another series, macular degeneration associated with length of streak and

distance of streak from fovea.

FLUORESCEIN ANGIOGRAPHIC FINDINGS

Most observe early hyperfluorescence of streaks with late staining.

Others observe hypofluorescence of streaks themselves with hyperfluorescence of

margins of streaks, which stain late.

Theory is underlying choriocapillaris may separate and produce nonperfusion area

of streak itself, which may cause hypofluorescence.

Peau d'orange: hypofluorescent areas on F.A., which may represent focal defects

of Bruch's membrane and choriocapillaris.

NATURAL HISTORY

Asymptomatic early.

20/200 or worse after 50 y.o.

In one study, >50% 20/40 at diagnosis, >50% worse than 20/200 at average of 3.6

y.

Cause of vision loss is macular degeneration or choroidal neovascularization.

Macular degeneration in 70% of those with angioid streaks.

Exudative form more common than atrophic type of maculopathy in patients with

angioid streaks.

Exudative form less common with angioid streaks associated with sickle cell

disease.

Not always associated with foveal angioid streak and does not occur in all

patients with a streak through fovea.

CNVM present in at least one eye of 86% of those with angioid steaks.

Minor trauma may cause subretinal hemorrhage, often with macular involvement.

SYSTEMIC ASSOCIATIONS

Occurs in 50-65% of those with angioid streaks.

PXE (34-61%), Paget's disease (10%), and hemoglobinopathy (6%).

Pseudoxanthoma Elasticum (PXE)

Systemic elastorrhexis affecting skin, eyes, GI system, heart.

Female:male = 2:1

Diagnosed 20's - 30's.

Inherited either A.R. or A.D.

Thought to be a result of accumulation of polyanions in dermis that attract

calcium, which cause mineralization.

Skin changes: Redundant waxy, yellow papule-like lesions on neck, face, abdomen,

axillary areas, inguinal regions, periumbilical area, and oral mucosa- " plucked

chicken. "

Skin biopsy: elastic tissue staining of the deep dermis, often with

calcification.

Systemic findings: cerebral ischemia, stroke, intracranial aneurysms,

claudication, hypertension, MI, GI hemorrhage.

Angioid streaks in 85% of those with PXE.

Peau d'orange: diffuse mottling of the RPE (multiple yellowish lesions).

Optic disk drusen: commonly associated with PXE and angioid streaks (10%, 5.8%).

Incidence 20-50 times normal in patients with PXE.

Disk drusen first manifestation?

Paget's Disease

Connective tissue disorder involving collagen matrix of bone.

Males=females.

Enlarged bone mass, extraskeletal calcifications of skin and arteries.

Elevated serum alkaline phosphatase and characteristic radiographic findings

Angioid streaks found in 8 - 15%.

Presence of angioid streaks associated with more severe systemic disease.

Hemoglobinopathies

Appear in 1-2% of patients with hemoglobinopathies.

Incidence increases with age.

Complications (CNVM and macular degeneration) uncommon with angioid streaks

associated with sickle cell disease.

Other Systemic Associations

Many-question coincidence.

Ehlers-Danlos

PATHOPHYSIOLOGY

Controversial.

Calcified and brittle Bruch's membrane in PXE and Paget's.

Various theories for sickle cell-elastic degeneration, iron deposition, impaired

nutrition, small vessel occlusion.

TREATMENT

Safety glasses. No contact sports. Low vision aids. Genetic counseling.

CNVM treated with laser. Recurrences more common with CNVM associated with

angioid streaks than with CNVM associated with other macular disorders.

Case Report:............................

POH: Diagnosed with pseudoxanthoma elasticum (PXE) at approximately age 48.

Transferred care to Wilmer at age 52, reporting gradual loss of central vision

and previous laser therapy O.D. At that time, her VA was 20/300 O.D. and 4/200

O.S. Angioid streaks and disciform scars were noted on each fundus. Her

refraction was maximized at +7.25 sphere O.U., and she uses magnifying low

vision aids.

She was diagnosed with glaucoma with IOP = 20 O.D., 28 O.S., and C/D = 0.6 O.D.,

0.8 O.S. This was managed with multiple medications and eventually necessitated

an argon laser trabeculoplasty O.S. to meet the target I.O.P. of 15.

She presents to the General Eye Service for routine follow up without new ocular

symptoms.

PMH: DM (diet-controlled), hypertension, partial complex seizures, degenerative

arthritis of knees, irregular heart rate, previous ectopic pregnancy.

Meds: levobunolol, Trusopt, and Xalatan O.U. All: N.K.D.A.

carbamazepine p.o.

FH: Mother with PXE, father with glaucoma. Brother, other relatives unknown to

patient.

Vcc 20/400, PH NI C gross 3/3 P 4 mild L. RAPD Ta 15

20/400, PH NI gross 3/3 4 15

Ext.

E.O.M.: 45 P.D. XT, fixing with O.D.

S.L.E.: Normal O.U.

D.F.E.:

O.D.

O.D.

O.S.

F.A.:

O.D.

O.D.